ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III (IGHD3)

Question 1

What is  ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III (IGHD3)?

Accepted Answer

rare
X-linked recessive
mutation in the BTK gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Wachstumshormonmangel, isolierter, Typ III

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 307200

Question 4

Which enzymes are involved?

Accepted Answer

Tyrosine-protein kinase BTK

Disease	ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III (IGHD3)
Synonym	IGHD III
OMIM	307200 OMIM = Online Mendelian Inheritance of Men
Orphanet	231692
Protein (UniProt)	Tyrosine-protein kinase BTK
Gene locus	Xq22.1
ICD	E23.0
Summary	rare X-linked recessive mutation in the BTK gene
Laboratory findings
Symptoms	onset, childhood onset, infancy